ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.113del (p.Lys38fs)

dbSNP: rs1057519064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000416321 SCV000485089 uncertain significance Borjeson-Forssman-Lehmann syndrome 2016-12-31 criteria provided, single submitter clinical testing

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